Mutation details:

Protein level identifier (n.a.):

p.Lys570_Met572del

cDNA level identifier (n.a.):

c.1708_1716delAAGAATATG

Gene level identifier:

g.83628_83636delAAGAATATG

Reference, alternative allele:

GAAGAATATG, G

Genomic location

not available

Gene name:

SPAST

Consequence:

unknown effect

Pathogenicity scoring:

Possibly pathogenic

CADD score:

22

Phosphorylation activity:

Positive functional evidence:

not available

Number of all included cases:

1 heterozygous (1 in total).